Variant report

Variant	rs12626954
Chromosome Location	chr21:44866913-44866914
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr21:44865563-44866984	Hela-S3	cervix:	n/a	chr21:44866341-44866352 chr21:44866340-44866353 chr21:44866091-44866101 chr21:44866897-44866905 chr21:44866159-44866168 chr21:44866414-44866423 chr21:44866413-44866424 chr21:44866337-44866356 chr21:44866342-44866351
2	MAX	chr21:44865736-44867006	HCT-116	colon:	n/a	chr21:44866341-44866352 chr21:44866340-44866353 chr21:44866091-44866101 chr21:44866897-44866905 chr21:44866159-44866168 chr21:44866414-44866423 chr21:44866413-44866424 chr21:44866337-44866356 chr21:44866342-44866351
3	TCF12	chr21:44865829-44867904	ECC-1	luminal epithelium:	n/a	chr21:44865937-44865947
4	SMC3	chr21:44865537-44867155	Hela-S3	cervix:	n/a	chr21:44865874-44865884 chr21:44865874-44865888 chr21:44865881-44865888
5	RFX5	chr21:44865801-44867113	Hela-S3	cervix:	n/a	n/a
6	TCF7L2	chr21:44865975-44867029	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr21:44864644-44867800	MCF10A-Er-Src	breast:	n/a	n/a
8	RAD21	chr21:44865572-44866980	Hela-S3	cervix:	n/a	chr21:44865874-44865888 chr21:44865575-44865585 chr21:44866014-44866028
9	MAX	chr21:44865843-44867891	ECC-1	luminal epithelium:	n/a	chr21:44866341-44866352 chr21:44866340-44866353 chr21:44866091-44866101 chr21:44866897-44866905 chr21:44866159-44866168 chr21:44866414-44866423 chr21:44866413-44866424 chr21:44866337-44866356 chr21:44866342-44866351
10	SMARCB1	chr21:44863164-44866969	Hela-S3	cervix:	n/a	chr21:44864827-44864836
11	POLR2A	chr21:44865213-44867066	Hela-S3	cervix:	n/a	n/a
12	E2F6	chr21:44865769-44867103	Hela-S3	cervix:	n/a	chr21:44866086-44866095 chr21:44866371-44866382
13	CHD2	chr21:44865773-44867052	Hela-S3	cervix:	n/a	n/a
14	MAX	chr21:44865757-44867901	ECC-1	luminal epithelium:	n/a	chr21:44866341-44866352 chr21:44866340-44866353 chr21:44866091-44866101 chr21:44866897-44866905 chr21:44866159-44866168 chr21:44866414-44866423 chr21:44866413-44866424 chr21:44866337-44866356 chr21:44866342-44866351
15	POLR2A	chr21:44864435-44867776	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr21:44865262-44867083	Hela-S3	cervix:	n/a	n/a
17	TBP	chr21:44865838-44867049	Hela-S3	cervix:	n/a	n/a
18	MAX	chr21:44865494-44867101	Hela-S3	cervix:	n/a	chr21:44866341-44866352 chr21:44866340-44866353 chr21:44866091-44866101 chr21:44866897-44866905 chr21:44866159-44866168 chr21:44866414-44866423 chr21:44866413-44866424 chr21:44866337-44866356 chr21:44866342-44866351
19	GTF2F1	chr21:44865650-44867118	Hela-S3	cervix:	n/a	n/a
20	MXI1	chr21:44865567-44866923	Hela-S3	cervix:	n/a	chr21:44865937-44865946
21	EP300	chr21:44865907-44866984	Hela-S3	cervix:	n/a	chr21:44866074-44866090
22	POLR2A	chr21:44860463-44867586	Hela-S3	cervix:	n/a	n/a
23	CEBPB	chr21:44865751-44867150	Hela-S3	cervix:	n/a	n/a
24	ZKSCAN1	chr21:44865776-44867135	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr21:44865525-44867527	MCF10A-Er-Src	breast:	n/a	n/a
26	RCOR1	chr21:44865650-44866980	Hela-S3	cervix:	n/a	n/a
27	CTCF	chr21:44866860-44867010	K562	blood:	n/a	n/a
28	STAT3	chr21:44866115-44866941	Hela-S3	cervix:	n/a	chr21:44866376-44866388 chr21:44866392-44866404
29	TCF12	chr21:44865917-44867888	ECC-1	luminal epithelium:	n/a	chr21:44865937-44865947
30	RAD21	chr21:44865881-44866964	ECC-1	luminal epithelium:	n/a	chr21:44866014-44866028
31	MAX	chr21:44865670-44867000	Hela-S3	cervix:	n/a	chr21:44866341-44866352 chr21:44866340-44866353 chr21:44866091-44866101 chr21:44866897-44866905 chr21:44866159-44866168 chr21:44866414-44866423 chr21:44866413-44866424 chr21:44866337-44866356 chr21:44866342-44866351
32	USF2	chr21:44866152-44867146	Hela-S3	cervix:	n/a	chr21:44866413-44866424 chr21:44866341-44866352
33	MAX	chr21:44865928-44866941	HCT-116	colon:	n/a	chr21:44866341-44866352 chr21:44866340-44866353 chr21:44866091-44866101 chr21:44866897-44866905 chr21:44866159-44866168 chr21:44866414-44866423 chr21:44866413-44866424 chr21:44866337-44866356 chr21:44866342-44866351
34	MAFK	chr21:44865808-44866983	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr21:44864344-44867439	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr21:44757949..44760610-chr21:44866735..44869231,2	MCF-7	breast:
2	chr21:44843469..44848793-chr21:44863960..44868998,7	MCF-7	breast:
3	chr21:44866839..44869557-chr21:44874645..44877226,3	MCF-7	breast:
4	chr21:44597050..44598895-chr21:44866871..44869287,2	MCF-7	breast:
5	chr21:44866574..44868384-chr21:44921844..44924261,3	MCF-7	breast:
6	chr21:44841201..44844089-chr21:44865285..44867395,2	MCF-7	breast:
7	chr21:44866366..44868087-chr21:44868239..44871091,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RRP1B-3	chr21:44864600-44870801	NONHSAT082407

Variant related genes	Relation type
LINC00319	TF binding region
ENSG00000142178	Chromatin interaction
ENSG00000188660	Chromatin interaction

Extended variants
information (count: 95 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs11088981	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.96[TSI][hapmap];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12626351	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12626369	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12626667	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12626693	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12626999	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12627012	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17004551	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17004552	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17004553	0.85[CEU][hapmap];0.86[CHB][hapmap];0.93[CHD][hapmap];0.90[JPT][hapmap];0.80[TSI][hapmap];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17004554	0.86[CHB][hapmap];0.86[CHD][hapmap];0.92[GIH][hapmap];0.90[JPT][hapmap];0.80[TSI][hapmap];0.94[ASN][1000 genomes]
rs17004555	0.86[CHB][hapmap];0.93[CHD][hapmap];0.89[GIH][hapmap];0.90[JPT][hapmap];0.80[TSI][hapmap];0.94[ASN][1000 genomes]
rs1865757	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1865758	0.82[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[ASN][1000 genomes]
rs229344	1.00[JPT][hapmap]
rs229346	0.90[JPT][hapmap]
rs230634	1.00[CHD][hapmap];0.90[JPT][hapmap];0.81[TSI][hapmap]
rs2838305	0.86[CHB][hapmap];0.93[CHD][hapmap];0.90[JPT][hapmap];0.94[ASN][1000 genomes]
rs364326	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs430554	1.00[JPT][hapmap]
rs476861	0.88[CHB][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.80[ASN][1000 genomes]
rs496799	0.89[JPT][hapmap]
rs529770	0.90[JPT][hapmap];0.89[MEX][hapmap];0.80[ASN][1000 genomes]
rs56015857	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56176112	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56243743	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs575818	0.88[CHB][hapmap]
rs58427549	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs587087	0.88[JPT][hapmap];0.80[ASN][1000 genomes]
rs58867020	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59776855	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60878920	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61001215	0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs643853	0.90[JPT][hapmap]
rs6518212	0.90[JPT][hapmap];0.92[ASN][1000 genomes]
rs7279895	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7281089	0.91[CEU][hapmap];0.90[JPT][hapmap];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7281094	0.93[CHD][hapmap];0.96[GIH][hapmap];0.90[JPT][hapmap];0.92[ASN][1000 genomes]
rs7281188	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7282229	0.88[CHB][hapmap]
rs7282498	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs73223039	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73223040	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73223041	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73223042	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73223043	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73223044	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73223046	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8131995	0.90[JPT][hapmap];0.92[ASN][1000 genomes]
rs9647237	1.00[CHD][hapmap];0.93[GIH][hapmap];0.90[JPT][hapmap];0.80[TSI][hapmap];0.92[ASN][1000 genomes]
rs9680399	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.96[TSI][hapmap];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9982011	1.00[CHD][hapmap];0.93[GIH][hapmap];0.90[JPT][hapmap];0.80[TSI][hapmap];0.86[ASN][1000 genomes]
rs9982824	0.90[JPT][hapmap];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1056684	chr21:44539714-44886119	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
2	nsv913831	chr21:44563995-44931821	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
3	nsv1057726	chr21:44711850-44957303	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
4	nsv544466	chr21:44711850-44957303	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
5	nsv913838	chr21:44740134-44931821	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
6	nsv913839	chr21:44750200-44931821	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
7	nsv913844	chr21:44779680-44875495	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
8	nsv913845	chr21:44781356-44874702	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
9	nsv470901	chr21:44781356-44884252	Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
10	nsv913847	chr21:44792003-44931821	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
11	nsv913849	chr21:44817248-44925334	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
12	nsv516339	chr21:44823479-44873060	Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
13	nsv459284	chr21:44827526-44866913	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
14	nsv587681	chr21:44827526-44866913	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
15	nsv459286	chr21:44829058-44866913	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
16	nsv459287	chr21:44829058-44866913	Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
17	nsv587682	chr21:44829058-44866913	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
18	nsv913852	chr21:44829087-44925334	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
19	nsv913853	chr21:44831981-44873017	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
20	nsv913854	chr21:44831981-44873060	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
21	nsv913855	chr21:44831981-44873795	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
22	nsv913856	chr21:44831981-44874702	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
23	nsv913857	chr21:44831981-44875495	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
24	nsv913858	chr21:44831981-44877881	Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
25	nsv913859	chr21:44831981-44884252	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
26	nsv913860	chr21:44831981-44925334	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
27	nsv913862	chr21:44833854-44877881	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
28	nsv459288	chr21:44835508-44870150	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
29	nsv587685	chr21:44835508-44870150	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
30	nsv913865	chr21:44835508-44873017	Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
31	nsv913866	chr21:44835508-44874702	Strong transcription Weak transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
32	nsv913867	chr21:44835508-44925334	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
33	nsv913868	chr21:44835508-44954522	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
34	nsv913869	chr21:44837555-44871063	Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
35	nsv828901	chr21:44838108-44873453	Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	63 gene(s)	inside rSNPs	diseases
36	nsv587686	chr21:44848070-44871189	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
37	nsv913870	chr21:44848070-44875495	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
38	nsv913871	chr21:44858534-44874702	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
39	nsv587687	chr21:44860542-44874702	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
40	nsv913872	chr21:44860542-44925334	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
41	nsv587688	chr21:44864079-44874702	Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
42	esv1839560	chr21:44864079-44973184	Bivalent Enhancer Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12626954	BRWD1	cis	parietal	SCAN
rs12626954	MX1	cis	cerebellum	SCAN

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:44856800-44873200	Enhancers	Placenta	Placenta
2	chr21:44858800-44867800	Enhancers	Fetal Intestine Small	intestine
3	chr21:44859400-44883600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr21:44861800-44869200	Weak transcription	Fetal Brain Female	brain
5	chr21:44862000-44870400	Enhancers	A549	lung
6	chr21:44862600-44868200	Enhancers	Spleen	Spleen
7	chr21:44862800-44867000	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
8	chr21:44863200-44867600	Weak transcription	Left Ventricle	heart
9	chr21:44863400-44877200	Weak transcription	Right Atrium	heart
10	chr21:44864200-44868800	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr21:44864400-44867400	Enhancers	Stomach Mucosa	stomach
12	chr21:44864400-44868800	Enhancers	Lung	lung
13	chr21:44864600-44867200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
14	chr21:44864800-44867000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr21:44864800-44867000	Weak transcription	Fetal Brain Male	brain
16	chr21:44864800-44868400	Bivalent Enhancer	Adipose Nuclei	Adipose
17	chr21:44864800-44870000	Weak transcription	HSMM	muscle
18	chr21:44865000-44869600	Weak transcription	HSMMtube	muscle
19	chr21:44865000-44869800	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr21:44865000-44873800	Weak transcription	GM12878-XiMat	blood
21	chr21:44865200-44867400	Enhancers	Fetal Intestine Large	intestine
22	chr21:44865200-44869600	Weak transcription	Fetal Lung	lung
23	chr21:44865600-44867200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr21:44865600-44867200	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr21:44865800-44867200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr21:44866000-44867000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr21:44866000-44867000	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr21:44866000-44868400	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr21:44866000-44868400	Weak transcription	HepG2	liver
30	chr21:44866200-44867600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr21:44866200-44868000	Weak transcription	Primary hematopoietic stem cells	blood
32	chr21:44866200-44873400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
33	chr21:44866400-44867000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr21:44866400-44867000	Flanking Active TSS	NHEK	skin
35	chr21:44866400-44867600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr21:44866600-44867200	Flanking Active TSS	Pancreas	Pancrea
37	chr21:44866600-44867400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr21:44866600-44867800	Enhancers	Esophagus	oesophagus
39	chr21:44866600-44867800	Bivalent Enhancer	Fetal Muscle Leg	muscle
40	chr21:44866600-44872200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
41	chr21:44866800-44867000	Enhancers	Gastric	stomach
42	chr21:44866800-44867000	Enhancers	Rectal Mucosa Donor 29	rectum
43	chr21:44866800-44867200	Enhancers	Liver	Liver
44	chr21:44866800-44867400	Enhancers	Duodenum Mucosa	Duodenum
45	chr21:44866800-44867600	Flanking Active TSS	Hela-S3	cervix
46	chr21:44866800-44867800	Enhancers	Right Ventricle	heart
47	chr21:44866800-44867800	Enhancers	HMEC	breast
48	chr21:44866800-44868000	Bivalent Enhancer	Fetal Thymus	thymus
49	chr21:44866800-44868200	Enhancers	HUVEC	blood vessel
50	chr21:44866800-44868800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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